A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. [ NCIT:C85864 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:204500 (Orphanet:228349)
  • DOID:0110726 (MONDO:equivalentTo)
  • Orphanet:228349 (OMIM:204500)
  • GARD:0003045 (Orphanet-shared)
  • NCIT:C85864 (MONDO:equivalentTo)
  • ICD10:E75.4 (Orphanet:228349)
Subsets

ordo_etiological_subtype

abbreviation
CLN2 [ https://omim.org/entry/204500 DOID:0110726 MONDO:Lexical ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1876161

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110726

http://identifiers.org/omim/204500

http://purl.obolibrary.org/obo/NCIT_C85864

http://www.orpha.net/ORDO/Orphanet_228349

has exact synonym

CLN2

neuronal ceroid lipofuscinosis caused by mutation in TPP1

neuronal ceroid lipofuscinosis type 2

neuronal ceroid lipofuscinosis 2 variable age at onset

ceroid lipofuscinosis, neuronal, type 2

TPP1 neuronal ceroid lipofuscinosis

late infantile neuronal ceroid lipofuscinosis

has related synonym

Jansky-Bielschowsky disease

neuronal ceroid lipofuscinosis, late infantile

ceroid lipofuscinosis, neuronal, 2, variable Age at onset

ceroid lipofuscinosis, neuronal, 2

CLN2 disease, juvenile (subtype)

CLN2 disease, late infantile (subtype)

CLN2 disease

id

MONDO:0008769